{"orpha":1452,"name":"Cleidocranial dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cleidocranial dysostosis"],"definition":"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1452/","orphanet_url":"https://www.orpha.net/en/disease/detail/1452","names":{"fr":{"name":"Dysostose cléidocrânienne","synonyms":["Dysplasie cléido-crânienne"],"definition":"La dysostose cléido-crânienne (CCD) est une anomalie génétique rare du développement des os caractérisée par une hypoplasie ou une aplasie des clavicules, une persistance des fontanelles et des sutures ainsi que des anomalies dentaires multiples."},"de":{"name":"Dysostose, kleidokraniale","synonyms":["Dysostosis cleidocranialis","Dysplasie, kleidokraniale"],"definition":"Die Kleidokraniale Dysplasie (CCD) ist eine seltene Anomalie der Knochenentwicklung und gekennzeichnet durch hypoplastische oder aplastische Schlüsselbeine, persistierende und weit offene Fontanellen und Schädelnähte und vielfache Zahnanomalien."},"es":{"name":"Displasia cleidocraneal","definition":"La displasia cleidocraneal (DCC) es un trastorno genético raro del crecimiento de los huesos que se caracteriza por clavículas hipoplásicas o aplásicas, persistencia de fontanelas y suturas abiertas y múltiples anomalías dentales."},"it":{"name":"Disostosi cleidocranica","synonyms":["Displasia cleidocranica"],"definition":"La displasia cleidocranica (CCD) è un'anomalia genetica rara dello sviluppo osseo, caratterizzata da ipoplasia o aplasia delle clavicole, persistenza dell'apertura delle fontanelle e delle suture craniche ed anomalie multiple dei denti."},"nl":{"name":"Cleidocraniale dysplasie","synonyms":["Cleidocraniale dysostose"],"definition":"Cleidocraniale dysplasie (CCD) is een zeldzame genetische ontwikkelingsstoornis van het bot en wordt gekenmerkt door hypoplastische of aplastische sleutelbeenderen, persistentie van ver open fontanellen en suturen en meerdere tandheelkundige afwijkingen."},"pt":{"name":"Displasia cleidocraniana","synonyms":["Disostose cleidocraniana"]},"pl":{"name":"Dysplazja obojczykowo-czaszkowa","synonyms":["Dyzostoza obojczykowo-czaszkowa"]},"cs":{"name":"Kleidokraniální dysplázie","synonyms":["Kleidokraniální dysostóza"]},"uk":{"name":"Клейдокраніальна дисплазія","synonyms":["Клідокраніальний дизостоз"],"definition":"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities."},"zh":{"name":"锁骨颅骨发育不良","synonyms":["锁骨颅骨发育不良"]},"tr":{"name":"Kleidokranyal displazi","synonyms":["Kleidokraniyal dizostoz"]}},"xrefs":[{"source":"OMIM","code":"119600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620099","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1960754156"},{"source":"MeSH","code":"D002973","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008928","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075994","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93451,"name":"Cleidocranial dysplasia and isolated cranial ossification defect","classifications":[147,156,199]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[{"symbol":"RUNX2","name":"RUNX family transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10472","ensembl":"ENSG00000124813","omim":"600211","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"United States","status":"Validated","source":"22461456[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008821","label":"Hypoplastic inferior ilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011219","label":"Short face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}